SNPJam Report for KARS

Showing coding SNPs for KARS (Gene ID: 3735)

Show all SNPs for this gene at dbSNP

This SNP viewer is in beta and your feedback is appreciated!

This SNPJam view is a snapshot of the information available at dbSNP and HapMap. It has been reformated to include the information most relevant to drug and metabolomics research.

Please note that population frequency data is updated on a nightly basis and may not be present if this gene was recently annotated.

Show all non-coding SNPs

[Top]

RS ID: 117561624 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75661845

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 2 N [Asn] / T [Thr]
missense NM_005548 Link_out NP_005539 Link_out 2 N [Asn] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GAAATTTTTAATTCCTTGTCTCTCTTCTGATGGCTGAACAGAACTGCGGTGTCAAATGGAAAGCAGCACACAAGAATTCCCTTGCAG
ACCTTGATCTTTCGCAGAAATGCAAAGACGCCTGAGTTATACAACTTGCAATTATTATTTTCTAGACAGAAGTGCCAACTGTTGTGCTTT
CCAGTGTATCAGTGGTTGCTACA G/T TCTCCTTCTTGTCTTCGGGTTTCATGGCAGGAAACAGAAGTACTTCCTGTGGGAGATAAGAA
TGTACCTTGAAGCTGAGAAGCACTCTCAACATTTTTTCACAGCTATCTACCCATTCCTCTTGCCTCTGTTGTTACCACCAAAATCCAGAG
ATTAGTATATTCCAGCTGAAAAGGCTCATGTGTTCTTTTATTTCAACT-3'

[Top]

RS ID: 117188693 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75669656

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 3 F [Phe] / L [Leu]
missense NM_005548 Link_out NP_005539 Link_out 3 F [Phe] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GACATTCTCATTAGGCATGAAGGATCCTGACACAGGATACGCTTTGGAAAAGGAAGGCAAGGGAGAGGAGGAGGCAAGCATTGCAAG
GCAGCTCATCACGTCAGGCAAGGAACTCTCCTTACCTCTAGGAATCCCAGCTCATCTAAGAAACTTCTTATATATGTGATGATCTTAGAG
CGGATGATAAATTTCTGCCTCAC A/C AAGTCATTCAGGATCAAGTCCAAGTATCTCTGGCGATACCTTGTTTCCTAAACCAAAAGCAG
CAGTTAGAAATCACTGGTATGTCTGATCCAAAGGTATGATAAAACAAACAGAAAGCTAGGAGGCCACAGCTAGGAGGCCAAGAACGCTTA
CCTTGTCTTTGAGGCCAAAGTGAAGATGAGGTAACATATGCAAACAGG-3'

[Top]

RS ID: 117041419 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75675514

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 2 N [Asn] / S [Ser]
missense NM_005548 Link_out NP_005539 Link_out 2 N [Asn] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACCAGATGCAGTGGGAGACCCTCCCTTATCCCTGGCAGTGACCTCAGGCGTACTGGTCCCTCCTACTGTCCAGTCCCAAAGAATCT
GCCAGAAGCCTCATCAGAAGCTTTCCTGTGCCCAACCATGCTGGTGGCCCAGGGAACTCACATTTGGGTCCACGCTCTCTTCCTCAGGAC
CCACACCATTATCAGTGGTGTGG C/T TGGTGGCAGCAGCAGTGGCTTGGCTTAGCTGTTTCTCACTGAGCTCTTTCTGTTTGGCCTCC
TTCTCTGCTACTTTCTTCTCAGCTTTCAGGCGTCTCTTCAGCTCACTGTTGGAAAGATGAAAGCGTTCAATGTGTTAGCTGCCTGAAGAG
TCCTCTATGTTCTGCCCCTAGCAACTTATCAAAAACATGAATCGCCCA-3'

[Top]

RS ID: 117013282 Link_out

Alleles: G/T

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75665608

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 2 T [Thr] / K [Lys]
missense NM_005548 Link_out NP_005539 Link_out 2 T [Thr] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAG
AGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGG
AGTCACCTGAAACCATCTTCTCC G/T TGATTTCCATGAGATCGTGATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCA
GGATTGTGCGTCAAATCAATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAA
CAACACATGGCCACGGTCATGACAGCTAATCTTTTTTTTTTTGAGATG-3'

[Top]

RS ID: 113570860 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75665333

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001130089 Link_out NP_001123561 Link_out 3 T [Thr] / T [Thr]
coding-synonymous NM_005548 Link_out NP_005539 Link_out 3 T [Thr] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCACACAGATATCATCAAGAATTTTGCGAGTTTCTGGGACACAAATGCAAA
AGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATGTACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCA
GAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTT C/T GTTTCTGGCAGC
TTCATCCCCAGGGCTTTCTCAAGCTCTTCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGG
CCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCC
AGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAG-3'

[Top]

RS ID: 113001454 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75665486

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001130089 Link_out NP_001123561 Link_out 3 G [Gly] / G [Gly]
coding-synonymous NM_005548 Link_out NP_005539 Link_out 3 G [Gly] / G [Gly]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACGGAGGAGTGAGTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCTTCATCCCCAGGGCTTTCTCAAGCTCT
TCTACCATGTTGATTCGCCGGAAGGGTGGGGTGAAGTCAACATCGTAGGCTTGGCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAA
CTGCCTGTAATATGCTTCACCAT A/C CCTGGGAGAGAAACCTGTTATTTAGCGGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAG
CATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCTTCTCCGTGATTTCCATGAGATCGTGATAGTCTGCAT
AGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAAT-3'

[Top]

RS ID: 111772248 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75665626

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 2 H [His] / R [Arg]
missense NM_005548 Link_out NP_005539 Link_out 2 H [His] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-GCCCTCTGGGCCATCTGGGTGGTAGGTGACCTTGTAACTGCCTGTAATATGCTTCACCATCCCTGGGAGAGAAACCTGTTATTTAGC
GGGAATGAAATCCAGGCAGCCCTCCTCTGAAAGCAGCATACCAACCACCCGATGAGTATGAGAGAGAGCAGGAGTCACCTGAAACCATCT
TCTCCGTGATTTCCATGAGATCG C/T GATAGTCTGCATAGGCCATGTAGAACTCACAGGTGGTGAACTCAGGATTGTGCGTCAAATCA
ATCCCCTCATTCCGGAACTGGCGTCCAATTTCATAAACCCGGTCGATGCCACCAACCACAAGCATCTAACAACAACACATGGCCACGGTC
ATGACAGCTAATCTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGC-3'

[Top]

RS ID: 77573084 Link_out

Alleles: A/G

Validation:

  • By cluster

Details:

Chromosome Reference Position
16 75665146

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 1 R [Arg] / C [Cys]
missense NM_005548 Link_out NP_005539 Link_out 1 R [Arg] / C [Cys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTAGGGTTTTCCTGTGAAGCTGCAGAAATGAACTCTCCCCAGTGGGGTTCATTTTCCCAGGGAAGAGGGAACCATTCAGCACCAGAT
GAGGACATGTACAAGAAGGCAGGGCCTTCTCACCTTGTCAAGGAGCCTGGCTGTGGTCCGAGGTGGAGGGCATTCAACAGCTTTTGCCAC
ACAGATATCATCAAGAATTTTGC A/G AGTTTCTGGGACACAAATGCAAAAGTTAGGGCAGGAGACATCACACTAGCCAAGTAAAAATG
TACATAAAGAGAATAGTGTGGGAAATTCTAGCTCTGACCCAATCAAATTCAGAGCTGAACAGGAAGGAGGGCCTTACAACGGAGGAGTGA
GTGTTGTCACTTTACCTTCAGTTTCAAAGAGGTTCGTTTCTGGCAGCT-3'

[Top]

RS ID: 76151791 Link_out

Alleles: C/T

Validation:

  • By cluster

Details:

Chromosome Reference Position
16 75675576

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001130089 Link_out NP_001123561 Link_out 3 K [Lys] / K [Lys]
coding-synonymous NM_005548 Link_out NP_005539 Link_out 3 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CCTACTGTCCAGTCCCAAAGAATCTGCCAGAAGCCTCATCAGAAGCTTTCCTGTGCCCAACCATGCTGGTGGCCCAGGGAACTCACA
TTTGGGTCCACGCTCTCTTCCTCAGGACCCACACCATTATCAGTGGTGTGGTTGGTGGCAGCAGCAGTGGCTTGGCTTAGCTGTTTCTCA
CTGAGCTCTTTCTGTTTGGCCTC C/T TTCTCTGCTACTTTCTTCTCAGCTTTCAGGCGTCTCTTCAGCTCACTGTTGGAAAGATGAAA
GCGTTCAATGTGTTAGCTGCCTGAAGAGTCCTCTATGTTCTGCCCCTAGCAACTTATCAAAAACATGAATCGCCCAGGAGAAACGCTCTT
GCTCAGTTCTATACCCCTCAATTCCACACCCACAGCTCAGCTCAAGTA-3'

[Top]

RS ID: 75096057 Link_out

Alleles: A/C

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
16 75663327

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
stop-gain NM_001130089 Link_out NP_001123561 Link_out 1 E [Glu] / X
stop-gain NM_005548 Link_out NP_005539 Link_out 1 E [Glu] / X

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCTTATGTACGACAGACTCAATACCAGATGAAGTCACCATCTTGAAATGTGACTCCTCCAGCAAGCCTATGGCTTTATCTTTCACTT
CTGAAGTCACCAAGAACGTATACGCTGACACAGATCAGGGTTAAGGCTGGTATTTCCTGGTGAGTTGGCACAGCTTCTGCTCACAGTCCC
CTTTCTCACCTTGGCCTGTTCTT A/C AAAAAGCTGCCGCTGCCGCATGGGATCATTCAGCTCAGTATACGCATTGCATATCTCTTTCT
TCATGACAAACAGCTCAAAGCGCTCAGTCAGACCCTCTTTAGAGCGGTGCCTAGGGACAGGAGACCAAAGAGGAGGCTGAATATAGAGGC
CCCTAATGAGCTAAATTTTGTTTTTTCTTTTTTTTTGAGACGGAGTCT-3'

[Top]

RS ID: 72563118 Link_out

Alleles: C/G

Validation:

  • By frequency

Details:

Chromosome Reference Position
16 75681491

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_005548 Link_out NP_005539 Link_out 2 P [Pro] / R [Arg]
near-gene-3 XM_002344103 Link_out Not Applicable Not Applicable Not Applicable
utr-5 NM_001130089 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTGGTGGGAACCTCGCGGCGCTTCCCAGCCCAGACTCTCCTACCGCAAAGGCTTTAAASACTCGCAGCGACACTCACTTCTTGCTCA
GTTTC C/G GCTCGCTGCCATCCACTTTCACCTCGGCCGCCTGCACGGCCGCCATCTTCCCGGAGGGCCCGRCCCAAAARTAAGGAGGA
TAGTACGTTAATTTCCAGGTCAAGGTGCGAARCCCCACCTCTTCCGGGGGAGAGGGGGCGGGCACTCTCGATGCKCCGCGGCTGCTGCTG
CGCAGGCCCAGTGCTGCGCTTCGCGGCAGAGGCGTCTKCGGTGACAGCTCAGTCAGTTGAGCTSTGTGTGCCAGGCGCTCGSGAGGGGGT
AGCTMTTCTAGTAGTGCTCGGCGTCAGACATGGCGGAGGCGATGGATTTGGGCAAAGACSCCAACGGGCCCACCCATTCCTCGACTCTGT
TCGTGAGGGACGACGGCAGCTCCATGTCCTTCTACGTGCGGCCCAGCCCGGCCAAGCGTCGGCTGTCGACGCTCATCCTGCACGGCGGCG
GCACCGTGTGCCGAGTGCAGGAGCCCGGGGCCGTGCTGCTGGCCCAGCCCGGGGAGGCGCTGGCCGAG-3'

[Top]

RS ID: 34610510 Link_out

Alleles: -/C

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75678253

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
frameshift NM_001130089 Link_out NP_001123561 Link_out 1 R [Arg] / E [Glu]
intron NM_005548 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CTTAGCACTCTTCTAGAATAAGATCCACATGTCATCTCAAGACTCTAAGGAGAGACGATTTGAATTTATTAAAGAGAAAATGAGAAA
GGACTATTGGTTTTGGTATTAGGGCTCCTTGTTTCCTTAGCAACAAGTCCAAAGACTTAGCCAGAGGCTTAACGGAAAATGAACCAAGTA
AGGAAATAATTTTTGCTTCCAGAGCAATAAAGAAGGTAATGGGCACCAACCTTCTTTGATCAGAAAATGACTTGTCCTTGTGAGGCGCTG
TGAAAGGAGCAAGTTGACCCAGTCGCAGTTCCC -/C TGTGACCCCACTCTGCCCAGGAGGTTTTGCGCAGGGACCCCCTAACAAGCCT
TACAGCAGCTTGCGTCAACATGGCAGAGCACCCTGGAACTAATGATTACCACCACCTAGCGGGAAACACAGAGATGTGGTGTCAGATGGG
ACAGACAGTATACATATACCCAACCAACTCTCTTATGGGTTGGGGAGGGGGACCATGCTTCTACTACCTTTTAGTCCCATTTAACTTAAG
ACTGTCTTAACTGATAGCAACCCTGTAACACTCTCTGTGCTACAACTGTAACTGACAATGTTCTTAGT-3'

[Top]

RS ID: 11557669 Link_out

Alleles: C/G

Validation:

  • By hap map

Details:

Chromosome Reference Position
16 75674196

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 1 E [Glu] / Q [Gln]
missense NM_005548 Link_out NP_005539 Link_out 1 E [Glu] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AATACTACAAAATCCGCAGTCAAGCAATTCATCAGCTGAAGGTCAATGGG C/G AAGACCCATACCCACACAAGTTCCATGTAGAC
ATCTCACTCACTGACTTC-3'

[Top]

RS ID: 11557668 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75675561

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001130089 Link_out NP_001123561 Link_out 3 K [Lys] / K [Lys]
coding-synonymous NM_005548 Link_out NP_005539 Link_out 3 K [Lys] / K [Lys]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGGCAGCTAACACATTGAACGCTTTCATCTTTCCAACAGTGAGCTGAAGAGACGCCTGAAAGCTGAGAAGAAAGTAGCAGAGAAGG
AGGCCAAACAGAA A/G GAGCTCAGTGAGAAACAGCTAAGCCAAGCCACTGCTGCTGCCACCAACCACACCACTGATAATGGTGTGGGT
CCTGAGGAAGAGAGCGTGGACCCAAATG-3'

[Top]

RS ID: 11557667 Link_out

Alleles: A/C

Validation:

  • By hap map

Details:

Chromosome Reference Position
16 75674190

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 1 P [Pro] / T [Thr]
missense NM_005548 Link_out NP_005539 Link_out 1 P [Pro] / T [Thr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ACAAAATCCGCAGTCAAGCAATTCATCAGCTGAAGGTCAATGGGGAAGAC A/C CATACCCACACAAGTTCCATGTAGACATCTCA
CTCACTGACTTCATCCAA-3'

[Top]

RS ID: 11557665 Link_out

Alleles: C/G

Validation:

  • By hap map

Details:

Chromosome Reference Position
16 75669943

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 2 G [Gly] / A [Ala]
missense NM_005548 Link_out NP_005539 Link_out 2 G [Gly] / A [Ala]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TTATAAATCAGAAGAAGAATTTATTCATATTAATAACAAACTGCGTCGGG C/G AGACATAATTGGAGTTCAGGGGAATCCTGGTA
AAACCAAGAAGGGTGAGC-3'

[Top]

RS ID: 11557664 Link_out

Alleles: C/T

Validation:

  • By hap map

Details:

Chromosome Reference Position
16 75674172

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 1 H [His] / Y [Tyr]
missense NM_005548 Link_out NP_005539 Link_out 1 H [His] / Y [Tyr]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAATTCATCAGCTGAAGGTCAATGGGGAAGACCCATACCCACACAAGTTC C/T ATGTAGACATCTCACTCACTGACTTCATCCAA
AAATATAGTCACCTGCAG-3'

[Top]

RS ID: 11556640 Link_out

Alleles: A/C

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75682237

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002344103 Link_out XP_002344144 Link_out 3 A [Ala] / A [Ala]
missense NM_018975 Link_out NP_061848 Link_out 1 R [Arg] / S [Ser]
near-gene-5 NM_001130089 Link_out Not Applicable Not Applicable Not Applicable
near-gene-5 NM_005548 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TCACGGATGCGGACGACGTAGCCATCCTTACCTACGTGAAGGAAAATGCC A/C GCTCGCCCAGCTCCGTCACCGGTAACGCCTTG
TGGAAAGCGATGGAGAAG-3'

[Top]

RS ID: 11556639 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75681811

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous XM_002344103 Link_out XP_002344144 Link_out 3 G [Gly] / G [Gly]
missense NM_018975 Link_out NP_061848 Link_out 1 P [Pro] / A [Ala]
near-gene-5 NM_001130089 Link_out Not Applicable Not Applicable Not Applicable
near-gene-5 NM_005548 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTAGTGCTCGGCGTCAGACATGGCGGAGGCGATGGATTTGGGCAAAGAC C/G CCAACGGGCCCACCCATTCCTCGACTCTGTTC
GTGAGGGACGACGGCAGC-3'

[Top]

RS ID: 11556638 Link_out

Alleles: C/G

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75682074

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_018975 Link_out NP_061848 Link_out 3 A [Ala] / A [Ala]
missense XM_002344103 Link_out XP_002344144 Link_out 1 G [Gly] / R [Arg]
near-gene-5 NM_001130089 Link_out Not Applicable Not Applicable Not Applicable
near-gene-5 NM_005548 Link_out Not Applicable Not Applicable Not Applicable

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-CAGTACATCCTGGACTGCGTGGAGCGCAACGAGAGGCTGGAGCTGGAGGC C/G TATCGGCTGGGCCCCGCCTCGGCGGCGGACAC
CGGCTCGGAAGCAAAGCC-3'

[Top]

RS ID: 7186504 Link_out

Alleles: G/T

Validation:

  • By hap map

Details:

Chromosome Reference Position
16 75664348

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 2 P [Pro] / Q [Gln]
missense NM_005548 Link_out NP_005539 Link_out 2 P [Pro] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-TATCACcagaggcttgatacgtgtttgcacaatgaggtctgttcttttggaagcttccccttagagcccaaccaccatgctgaaggg
aagcccaggctgtgctgccagacaggccacatgaagaggccctggaggataagatcgtatgtggagtgaccacgtggaggagaaccaaag
tgccctggcagaatccccagttgaaaaaaagccacttgggttaccctggtcaacaccacccagcagaaagaccaccagtcaaaccacaaa
atcttgacaataaattgttaacaccactaagttttggggctgttatgcagcaataggtaactggaaTCTTACCATTTAGCCAAAGGGCTC
ATTATCTGT G/T GGTGATCACAGATGAATGTAGGATTGATGCAAGTCACTTCCAGGAACTCCCCAACAAGCTTAATGAGAAAGCAAAG
CAGAGTCAGTCACCATTTCTGAATAGTATTTGATCGTCCCAGCCCAGACAGAAGATCTCAGCTCCCATCCAGATGGGTTTATCCTATAGC
tttttatttatttattattattattattattattattgagatggagtctcgctctgtcgcccaggctggagtgcagtggcatgatctcgg
cttgctgcaacctccgcatcctggttccagtgattctcgtgcctcagcctcctgaatagcggggattacaggtgcccgccaccataccca
gctcatttttggattttttgtagagacagggtttcaccatgttggccaggctggtttcgaactcctgacctcaggtgattcatctgcctc
ggcctcctgaagtgctgggattacaggtgtgagccaccatgcccACCCTACCCTATAGCTTTTTAAAAGCTGGACGGG-3'

[Top]

RS ID: 5030748 Link_out

Alleles: A/G

Validation:

  • By frequency
  • By cluster

Details:

Chromosome Reference Position
16 75675609

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001130089 Link_out NP_001123561 Link_out 3 R [Arg] / R [Arg]
coding-synonymous NM_005548 Link_out NP_005539 Link_out 3 R [Arg] / R [Arg]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATCTTGGTTTTAGTTGGGACCTAATGCCAAGGACCTGAGACTGGCAAGCAGAGACTGAGAGTGATTTTTCACATCTTTGTTCTAAGC
TTATTTTTCCCTTTGTGTCTTTCACATAAAGAGTTTAGTGACAAGCTACTTGAGCTGAGCTGTGGGTGTGGAATTGAGGGGTATAGAACT
GAGCAAGAGCGTTTCTCCTGGGCGATTCATGTTTTTGATAAGTTGCTAGGGGCAGAACATAGAGGACTCTTCAGGCAGCTAACACATTGA
ACGCTTTCATCTTTCCAACAGTGAGCTGAAGAG A/G CGCCTGAAAGCTGAGAAGAAAGTAGCAGAGAAGGAGGCCAAACAGAAAGAGC
TCAGTGAGAAACAGCTAAGCCAAGCCACTGCTGCTGCCACCAACCACACCACTGATAATGGTGTGGGTCCTGAGGAAGAGAGCGTGGACC
CAAATGTGAGTTCCCTGGGCCACCAGCATGGTTGGGCACAGGAAAGCTTCTGATGAGGCTTCTGGCAGATTCTTTGGGACTGGACAGTAG
GAGGGACCAGTACGCCTGAGGTCACTGCCAGGGATAAGGGAGGGTCTCCCACTGCATCTGGTTAAAGG-3'

[Top]

RS ID: 3211301 Link_out

Alleles: A/G

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75665423

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
coding-synonymous NM_001130089 Link_out NP_001123561 Link_out 3 Q [Gln] / Q [Gln]
coding-synonymous NM_005548 Link_out NP_005539 Link_out 3 Q [Gln] / Q [Gln]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-ATTACAGGCAGTTACAAGGTCACCTACCACCCAGATGGCCCAGAGGGCCA A/G GCCTACGATGTTGACTTCACCCCACCCTTCCG
GCGAATCAACATGGTAGA-3'

[Top]

RS ID: 1802510 Link_out

Alleles: C/T

Validation:

Not Completed

Details:

Chromosome Reference Position
16 75661875

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 2 P [Pro] / L [Leu]
missense NM_005548 Link_out NP_005539 Link_out 2 P [Pro] / L [Leu]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AACATCAAGGAAGTACTTCTGTTTC C/T TGCCATGAAACCCGAAGACAAGAAG-3'

[Top]

RS ID: 6834 Link_out

Alleles: C/G

Validation:

  • By frequency
  • By 2 hit 2 allele
  • By cluster

Details:

Chromosome Reference Position
16 75661803

Function Class mRNA Accession Protein Accession Reading Frame Amino Acids
missense NM_001130089 Link_out NP_001123561 Link_out 2 T [Thr] / S [Ser]
missense NM_005548 Link_out NP_005539 Link_out 2 T [Thr] / S [Ser]

Source: dbSNP

Population Frequencies:

Not Completed

Sequence:

5'-AGTGCCCTAGGCAGTGCTATGCATTTGTTCTTTGTCATCTGTAACTTGAGAGGGTCTGAGTTGAAATAAAAGAACACATGAGCCTTT
TCAGCTGGAATATACTAATCTCTGGATTTTGGTGGTAACAACAGAGGCAAGAGGAATGGGTAGATAGCTGTGAAAAAATGTTGAGAGTGC
TTCTCAGCTTCAAGGTACATTCTTATCTCCCACAGGAAGTACTTCTGTTTCCTGCCATGAAACCCGAAGACAAGAAGGAGAATGTAGCAA
CCACTGATACACTGGAAAGCACAACAGTTGGCA C/G TTCTGTCTAGAAAATAATAATTGCAAGTTGTATAACTCAGGCGTCTTTGCAT
TTCTGCGAAAGATCAAGGTCTGCAAGGGAATTCTTGTGTGCTGCTTTCCATTTGACACCGCAGTTCTGTTCAGCCATCAGAAGAGAGACA
AGGAATTAAAAATTTCTTTTTAATCCTGTTACCAAATAAGCCATTTGTCTCTTCTCTTTACTTTTAGAATATCAACTTTTTTCCCCAGAC
TTCTGGCCTAATGAATGTTTAGGATTTTACCATCTTATTCATTTAACAAATTTGTATTAATGTCTGCC-3'